CTNNB1

The information for this summary of CTNNB1-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full CTNNB1 Gene Guide

The online Gene Guide includes more information about CTNNB1 such as the chance of having another child with this condition, behavior and development concerns linked to CTNNB1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

CTNNB1-related syndrome is also called CTNNB1 neurodevelopmental disorder. For this webpage, we will be using the name CTNNB1-related syndrome to encompass the wide range of variants observed in the people identified.

Latest Quarterly Report Download Report

The latest Simons Searchlight report includes updated information on your genetic community. It showcases the power of your contributions and how this data advances research.

If you are not yet registered, consider joining Simons Searchlight to be included in future reports!

View all reports below by clicking on “Previous Quarterly Reports” at the bottom of this page.

What is CTNNB1-related syndrome?

CTNNB1-related syndrome happens when there are changes to the CTNNB1 gene. These changes can keep the gene from working as it should.

Key Role

The CTNNB1 gene plays a key role in the communication that happens between cells and how cells connect to each other.

Symptoms

Because the CTNNB1 gene is important for brain activity, many people who have CTNNB1-related syndrome have:

Developmental delay
Intellectual disability
Speech delay
Behavioral challenges, such as autism, aggression, attention-deficit/hyperactivity disorder (ADHD)
Aggression
Sleep difficulty
Movement issues, including cerebral palsy
Feeding challenges
Low muscle tone
Small head size
Sideways curve of the spine, also called scoliosis
Retinal issues, such as fewer blood vessels, holes, scarring, and retinal detachment that may lead to vision impairment; A common finding may be familial exudative vitreoretinopathy (FEVR)
Less common features that may be associated with CTNNB1 genetic variants include heart defects and an exaggerated startle response

How many people have CTNNB1-related syndrome?

As of 2026, more than 250 people with CTNNB1-related syndrome have been identified in a medical clinic.

Support Resources

Simons Searchlight Community – CTNNB1 Facebook group
CTNNB1 Connect and Cure – CURECTNNB1.org
Unique – CTNNB1 Guidebook
Geisinger Developmental Brain Disorder Gene Database – CTNNB1
NDD GeneHub – CTNNB1
SFARI Gene – CTNNB1 website

GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care. Check out the GeneReviews for CTNNB1.

Research Article Summaries

Below, we have summarized research articles about changes in the CTNNB1 gene. We hope you find this information helpful. The information available about CTNNB1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for CTNNB1 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features Original research article by V. Tucci et al. (2014). Read the abstract here and the Simons Searchlight summary here.
Diagnostic exome sequencing in persons with severe intellectual disability Original research article by J. de Ligt et al. (2012). Read the article here and the Simons Searchlight summary here.
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations Original research article by B. O’Roake et al. (2012). Read the article here and the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight Help the Simons Searchlight team learn more about CTNNB1 genetic changes by taking part in our research. You can learn more about the project and sign up here.

TIGER Study The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in CTNNB1. Click here to learn more about this opportunity. *This study is not affiliated with Simons Searchlight.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.

Family Stories

Stories from CTNNB1 families:

Click here to share your family’s story!

Previous Quarterly Reports